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About 45,332 results

Hereditary Papillary Renal Carcinoma (PDQ®)–Health Professional Version
https://www.cancer.gov/types/kidney/hp/renal-cell-carcinoma-genetics/hprc-syndrome?cid=eb_govdel
National Cancer Institute

Hereditary papillary renal carcinoma (HPRC) is an autosomal dominant syndrome with a predisposition to the development of bilateral and multifocal type 1 papillary renal cell carcinoma (RCC).[1]

Von Hippel-Lindau Disease (PDQ®)–Health Professional Version
https://www.cancer.gov/types/kidney/hp/renal-cell-carcinoma-genetics/vhl-syndrome?cid=eb_govdel
National Cancer Institute

Von Hippel-Lindau disease (VHL) is an autosomal dominant disease with a predisposition to multiple neoplasms. Germline pathogenic variants in the VHL gene predispose individuals to specific types of both benign and malignant tumors and cysts in many organ systems.

Direct-to-consumer genetic testing
https://www.ama-assn.org/delivering-care/precision-medicine/direct-consumer-genetic-testing

Apr 2nd, 2019 - Types of DTC genetic tests A broad range of genetic test types are offered DTC, including: Carrier testing for diseases such as cystic fibrosis and hemochromatosis Pharmacogenomic testing Testing for predisposition to complex diseases such as hereditary cancers, cardiovascular disease and depression Whole exome or genome sequencing Testing to determine ancestry

Hereditary Cancer Syndromes and Risk Assessment ACOG COMMITTEE OPINION, Number 793
https://journals.lww.com/greenjournal/Fulltext/2019/12000/Hereditary_Cancer_Syndromes_and_Risk_Assessment_.39.aspx
Obstetrics & Gynecology; ACOG

Nov 30th, 2019 - A hereditary cancer syndrome is a genetic predisposition to certain types of cancer, often with onset at an early age, caused by inherited pathogenic variants in one or more genes. Most hereditary cancer syndromes exhibit autosomal dominant inheritance. The most common hereditary cancer syndromes related to women’s cancer include hereditary breast and ovarian cancer syndrome, Lynch syndrome, Li...

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3771855
Nature Ebert BL, Pretz J et. al.

Jan 18th, 2008 - Somatic chromosomal deletions in cancer are thought to indicate the location of tumour suppressor genes, by which a complete loss of gene function occurs through biallelic deletion, point mutation or epigenetic silencing, thus fulfilling Knudson's two-hit hypothesis. In many recurrent deletions, however, such biallelic inactivation has not been found. One prominent example is the 5q- syndrome, ...

Genomic alterations in biliary atresia suggest region of potential disease susceptibili...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2914625
American Journal of Medical Genetics. Part A; Leyva-Vega M, Gerfen J et. al.

Apr 1st, 2010 - Biliary atresia (BA) is a progressive, idiopathic obliteration of the extrahepatic biliary system occurring exclusively in the neonatal period. It is the most common disease leading to liver transplantation in children. The etiology of BA is unknown, although infectious, immune and genetic causes have been suggested. Although the recurrence of BA in families is not common, there are more than 3...

Identification of cell-type-specific mutations in nodal T-cell lymphomas.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5301031
Blood Cancer Journal; Nguyen TB, Sakata-Yanagimoto M et. al.

Feb 5th, 2017 - Recent genetic analysis has identified frequent mutations in ten-eleven translocation 2 (TET2), DNA methyltransferase 3A (DNMT3A), isocitrate dehydrogenase 2 (IDH2) and ras homolog family member A (RHOA) in nodal T-cell lymphomas, including angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified. We examined the distribution of mutations in these subtypes of m...

Multiple sclerosis and the major histocompatibility complex.
https://doi.org/10.1097/WCO.0b013e32832b5417
Current Opinion in Neurology; Ramagopalan SV, Knight JC et. al.

Apr 23rd, 2009 - Multiple sclerosis (MS) is the most common neurological disease affecting young adults. The cause is unknown, but detailed epidemiological and genetic studies have shown a clear inherited component. We review here some of the recent findings of MS genetics with a particular focus on genes of the major histocompatibility complex (MHC). Recent studies add further complexity to the role of the MHC...

Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3434228
Nature Genetics; Sherborne AL, Hosking FJ et. al.

May 10th, 2010 - Using data from a genome-wide association study of 907 individuals with childhood acute lymphoblastic leukemia (cases) and 2,398 controls and with validation in samples totaling 2,386 cases and 2,419 controls, we have shown that common variation at 9p21.3 (rs3731217, intron 1 of CDKN2A) influences acute lymphoblastic leukemia risk (odds ratio = 0.71, P = 3.01 x 10(-11)), irrespective of cell li...

Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5789213
Dialogues in Clinical Neuroscience; Fernandez BA, Scherer SW

Feb 5th, 2018 - Autism spectrum disorder (ASD) encompasses a group of neurodevelopmental conditions diagnosed solely on the basis of behavioral assessments that reveal social deficits. Progress has been made in understanding its genetic underpinnings, but most ASD-associated genetic variants, which include copy number variants (CNVs) and mutations in ASD-risk genes, account for no more than 1 % of ASD cases. T...

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.
https://doi.org/10.1007/s10048-012-0319-8
Neurogenetics Smith MJ, Wallace AJ et. al.

Mar 21st, 2012 - Mutations of the SMARCB1 gene have been implicated in several human tumour predisposing syndromes. They have recently been identified as an underlying cause of the tumour suppressor syndrome schwannomatosis. There is a much higher rate of mutation detection in familial disease than in sporadic disease. We have carried out extensive genetic testing on a cohort of familial and sporadic patients w...

IL-12 RB1 genetic variants contribute to human susceptibility to severe acute respirato...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2367437
PloS One; Tang F, Liu W et. al.

May 14th, 2008 - Cytokines play important roles in antiviral action. We examined whether polymorphisms of interleukin (IL)-12 receptor B1 (IL-12RB1) affect the susceptibility to and outcome of severe acute respiratory syndrome (SARS). A case-control study was carried out in Chinese SARS patients and healthy controls. The genotypes of 4SNPs on IL-12 RB1 gene, +705A/G,+1158T/C, +1196G/C and +1664 C/T, were determ...

Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
https://doi.org/10.1038/ng.2599
Nature Genetics; Dibbens LM, de Vries B et. al.

Apr 1st, 2013 - The majority of epilepsies are focal in origin, with seizures emanating from one brain region. Although focal epilepsies often arise from structural brain lesions, many affected individuals have normal brain imaging. The etiology is unknown in the majority of individuals, although genetic factors are increasingly recognized. Autosomal dominant familial focal epilepsy with variable foci (FFEVF) ...

Gene discovery in familial cancer syndromes by exome sequencing: prospects for the eluc...
https://doi.org/10.1038/modpathol.2012.62
Modern Pathology : an Official Journal of the United Stat... Ku CS, Cooper DN et. al.

Apr 23rd, 2012 - Recent advances in genotyping and sequencing technologies have provided powerful tools with which to explore the genetic basis of both Mendelian (monogenic) and sporadic (polygenic) diseases. Several hundred genome-wide association studies have so far been performed to explore the genetics of various polygenic or complex diseases including those cancers with a genetic predisposition. Exome sequ...

Integrative genomics identifies LMO1 as a neuroblastoma oncogene.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3320515
Nature Wang K, Diskin SJ et. al.

Dec 2nd, 2010 - Neuroblastoma is a childhood cancer of the sympathetic nervous system that accounts for approximately 10% of all paediatric oncology deaths. To identify genetic risk factors for neuroblastoma, we performed a genome-wide association study (GWAS) on 2,251 patients and 6,097 control subjects of European ancestry from four case series. Here we report a significant association within LIM domain only...

A recessive form of extreme macrocephaly and mild intellectual disability complements t...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820037
European Journal of Human Genetics : EJHG; Schwerd T, Khaled AV et. al.

Oct 7th, 2015 - PTEN hamartoma tumour syndrome (PHTS) is caused by heterozygous variants in PTEN and is characterised by tumour predisposition, macrocephaly, and cognition impairment. Bi-allelic loss of PTEN activity has not been reported so far and animal models suggest that bi-allelic loss of PTEN activity is embryonically lethal. Here, we report the identification of a novel homozygous variant in PTEN, NM_0...

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.
https://doi.org/10.1016/S1474-4422(08)70258-8
The Lancet. Neurology; Salinas S, Proukakis C et. al.

Nov 14th, 2008 - Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative disorders in which the most severely affected neurons are those of the spinal cord. These disorders are characterised clinically by progressive spasticity and weakness of the lower limbs, and pathologically by retrograde axonal degeneration of the corticospinal tracts and posterior columns. In recen...

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study G...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040906
Haematologica De Rocco D, Bottega R et. al.

Mar 3rd, 2014 - Fanconi anemia is an inherited disease characterized by congenital malformations, pancytopenia, cancer predisposition, and sensitivity to cross-linking agents. The molecular diagnosis of Fanconi anemia is relatively complex for several aspects including genetic heterogeneity with mutations in at least 16 different genes. In this paper, we report the mutations identified in 100 unrelated proband...

Differential cancer predisposition in Lynch syndrome: insights from molecular analysis ...
https://doi.org/10.1093/carcin/bgn133
Carcinogenesis Gylling AH, Nieminen TT et. al.

Jun 13th, 2008 - Hereditary non-polyposis colorectal carcinoma (Lynch syndrome) is among the most common hereditary cancers in man and a model of cancers arising through deficient DNA mismatch repair (MMR). Lynch syndrome patients are predisposed to different cancers in a non-random fashion, the basis of which is poorly understood. We addressed this issue by determining the molecular profiles for different tumo...

Influence of glutathione S-transferase M1 and T1 homozygous null mutations on the risk ...
https://doi.org/10.1111/j.1478-3231.2008.01700.x
Liver International : Official Journal of the Internation... Leiro V, Fernández-Villar A et. al.

Apr 9th, 2008 - Genetic variations in enzymes of isoniazid metabolism confer an increased risk for antituberculosis drug-induced hepatotoxicity in Asian populations. The present study was aimed at investigating the possible association of antituberculosis drug-induced hepatotoxicity with polymorphisms at the glutathione S-transferase (GST) gene in a Caucasian population. A prospective case-control study was ne...